gms | German Medical Science

66. Jahrestagung der Deutschen Gesellschaft für Medizinische Informatik, Biometrie und Epidemiologie e. V. (GMDS), 12. Jahreskongress der Technologie- und Methodenplattform für die vernetzte medizinische Forschung e. V. (TMF)

26. - 30.09.2021, online

Problems of finding rare diseases in the documentation of German hospitals

Meeting Abstract

  • Tamara Martin - University Hospital and University of Tübingen, Tübingen, Germany
  • Kais Tahar - University Medical Center Göttingen, Göttingen, Germany
  • Moritz Lehne - Berlin Institute of Health, Berlin, Germany
  • Helge Hebestreit - University Hospital Würzburg, Würzburg, Germany
  • Josef Schepers - Berlin Institute of Health, Berlin, Germany
  • Dagmar Krefting - University Medical Center Göttingen, Göttingen, Germany
  • Holm Graeßner - University Hospital and University of Tübingen, Tübingen, Germany

Deutsche Gesellschaft für Medizinische Informatik, Biometrie und Epidemiologie. 66. Jahrestagung der Deutschen Gesellschaft für Medizinische Informatik, Biometrie und Epidemiologie e. V. (GMDS), 12. Jahreskongress der Technologie- und Methodenplattform für die vernetzte medizinische Forschung e.V. (TMF). sine loco [digital], 26.-30.09.2021. Düsseldorf: German Medical Science GMS Publishing House; 2021. DocAbstr. 59

doi: 10.3205/21gmds117, urn:nbn:de:0183-21gmds1174

Veröffentlicht: 24. September 2021

© 2021 Martin et al.
Dieser Artikel ist ein Open-Access-Artikel und steht unter den Lizenzbedingungen der Creative Commons Attribution 4.0 License (Namensnennung). Lizenz-Angaben siehe http://creativecommons.org/licenses/by/4.0/.


Gliederung

Text

Introduction: Rare diseases (RDs), in Europe defined as affecting fewer than 5 in 10,000 people, are typically serious and often life-threatening chronic diseases [1]. The RD burden remains high, partially attributed to scarce visibility in the healthcare system due to missing availability of appropriate RD classification and documentation.

Methods: We review two main problems limiting RD visibility (i) insufficient disease codification system, and (ii) documentation in hospital information systems (HIS).

Results: (i) Insufficiency in coding systems: ICD-10-GM as the official classification for the encoding of diagnoses in medical care primarily serves the purpose of encoding for billing and statistics. Coding for RDs, ICD-10 displays poor granularity [2]. Accurate diagnostic representation is not rewarded. The OrphaCode classification introduces an interoperable coding system for diagnostic documentation and data sharing of RD [3]. It assigns each RD a consecutive identification number (“OrphaCode”). Central issues are however the lack of incentives for OrphaCoding and its relation to ICD-10. The two classification systems inherently differ in organization, linearization and granularity.

The Alpha-ID-SE coding system enables standardized coding of RDs according to both systems [4]. It is an extended variant of Alpha-IDs, which allocate a sequential and stable identification number to each entry in the Alphabetical Index of ICD-10-GM, designed for electronic communication of medical/natural language diagnostic terms [5]. However, the Alpha-ID-SE currently only lists about 70% of all RD entities.

(ii) Problems related to the HIS: The main subsystems of the HIS currently display insufficient communication hampering accurate visibility of RDs. The coding software is not appropriately linked to the other systems of the HIS, especially concerning designated data fields for Orpha/Alpha-ID coding. To date, coding software typically does not include an up-to-date Alpha-ID-SE list. In documentation practise, medical documentation is not inherently linked to billing-focused coding. Chronic RDs not relevant for the actual billing are not transmitted between interfaces and thus “lost in translation”.

Discussion: Systematically linking OrphaCode to mandatory ICD-10-GM coding is a feature that Alpha-ID-SE tries to accomplish – but cumbersome for described reasons. Structures that enable appropriate RD coding in the clinical workplace system still need to be introduced. Given the many different software solutions being used at German hospitals, achieving high coverage is a challenging task. On a systematic yet project level CORD-MI addresses these two problems to make RD visible and amenable to research questions. OrphaCoding is systematically introduced in participating university hospitals and commercial providers started adapting their IT systems. The German legislator is now about to prescribe the coding of RDs in the "Digital Care and Nursing Modernisation Act” [6].

Conclusion: Finding RDs in (the documentation of) German hospitals is currently an unsolved issue due to problems in the disease codification and in the HIS – hampering care and research. These problems are addressed by CORD-MI, in new legislation and progressively by commercial IT providers. After technical implementation, changing the coding and documentation practise at the hospitals will be challenging.

This review was compiled within the “Collaboration on Rare Diseases” of the Medical Informatics Initiative (CORD-MI, FKZ-01ZZ1911R).

The authors declare that they have no competing interests.

The authors declare that an ethics committee vote is not required.


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